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Genetics

Authoring team

This syndrome is inherited in an autosomal dominant pattern, but the penetrance is variable, in addition to which many cases are sporadic and arise as a new mutation.

There is no antenatal diagnostic test available for this syndrome.

Reference

  1. Limal JM, Parfait B, Cabrol S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab. 2006 Jan;91(1):300-6.

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